Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000484094 | SCV000570123 | uncertain significance | not provided | 2018-01-19 | criteria provided, single submitter | clinical testing | This variant is denoted CHEK2 c.445-9C>G or IVS3-9C>G and consists of a C>G nucleotide substitution at the -9 position of intron 3 of the CHEK2 gene. In-silico analyses, which include splice predictors and evolutionary conservation, are inconsistent in their assessment as to whether or not the variant is damaging. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. This variant was not observed in large population cohorts (Lek 2016). Based on currently available evidence, it is unclear whether CHEK2 c.445-9C>G is a pathogenic or benign variant. We consider it to be a variant of uncertain significance. |
| Invitae | RCV001079878 | SCV001057040 | likely benign | Familial cancer of breast | 2023-11-05 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV001180854 | SCV001345890 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-28 | criteria provided, single submitter | clinical testing | This variant causes a C>G nucleotide substitution at the -9 position of intron 3 of the CHEK2 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |